Pachydermoperiostosis

Common Name(s)

Pachydermoperiostosis

Pachydermoperiostosis is a rare disorder characterized by clubbing of the fingers and toes; thickening of the skin of the face (pachyderma); excessive sweating (hyperhidrosis); and new bone formation associated with joint pain. Other features may include congenital heart disease and delayed closure of fontanelles. This condition typically appears during childhood or adolescence, often around the time of puberty, and progresses slowly for about ten years. Both autosomal dominant and autosomal recessive inheritance has been reported.  Mutations in the HPGD gene have been found in those with the autosomal recessive form of this condition.
 

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pachydermoperiostosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pachydermoperiostosis" returned 31 free, full-text research articles on human participants. First 3 results:

Images in clinical medicine. Pachydermoperiostosis.
 

Author(s): Cai-Yue Liu, Ying-Fan Zhang

Journal: N. Engl. J. Med.. 2014 May;370(20):1930.

 

Last Updated: 15 May 2014

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Learning difficulty and pachydermoperiostosis.
 

Author(s): M P Gajre, R P Khubchandani, K Mahathi, R Mendadkar

Journal: J Postgrad Med. ;60(2):205-6.

 

Last Updated: 14 May 2014

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Cutis verticis gyrata as a clinical manifestation of Touraine-Solente-Gole' syndrome (pachydermoperiostosis).
 

Author(s): Aldo René Hurtarte Sandoval, Bryan Josué Flores Robles, Jaime Caceres Llanos, Salvador Porres, José David Penate Dardón, Rachael Marie Harrison

Journal:

 

Cutis verticis gyrata is a descriptive term for a condition of the scalp consisting of deep grooves and convolutions that resemble the surface of the brain. We present a case of a 22-year-old man who presented with pain and swelling of both knees and hands. Enlarged wrists, ankles ...

Last Updated: 15 Jul 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pachydermoperiostosis" returned 1 free, full-text review articles on human participants. First 3 results:

Pachydermoperiostosis with myelofibrosis and anemia: report of a case of anemia of multifactorial causes and its improvement with steroid pulse and iron therapy.
 

Author(s): H Tanaka, S Maehama, F Imanaka, A Sakai, K Abe, M Hamada, J Yamashita, A Kimura, N Imamura, K Fujimura

Journal: Jpn. J. Med.. ;30(1):73-80.

 

A 26-year-old male patient with pachydermoperiostosis is reported. He had severe anemia with myelofibrosis. Treatment with iron, prednisolone, oxymethorone and 1 alpha (OH)D3 were not satisfactory. But steroid pulse therapy with parenteral iron improved his anemia and pancytopenia, ...

Last Updated: 11 Sep 1991

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Effect Observation Study of COX-2 Inhibitor to Treat Primary Hypertrophic Osteoarthropathy
 

Status: Recruiting

Condition Summary: Primary Hypertrophic Osteoarthropathy

 

Last Updated: 5 May 2015

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